Variant report

Variant	rs73024438
Chromosome Location	chr1:153507535-153507536
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:20)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:20 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:153505949..153508623-chr1:153516119..153518362,2	K562	blood:
2	chr1:153507285..153510261-chr1:153579792..153582160,3	MCF-7	breast:
3	chr1:153507494..153508418-chr11:126173674..126174307,2	Hela-S3	cervix:
4	chr1:153505870..153508233-chr1:153598440..153600666,2	MCF-7	breast:
5	chr1:153506339..153510656-chr1:153517043..153519160,4	K562	blood:
6	chr1:153505342..153508148-chr1:153641864..153643367,2	MCF-7	breast:
7	chr1:153506953..153507640-chr18:9614188..9615055,2	Hela-S3	cervix:
8	chr1:153504897..153511307-chr1:153536318..153542519,37	MCF-7	breast:
9	chr1:153507319..153508218-chr15:65596903..65597603,2	Hela-S3	cervix:
10	chr1:153504456..153510099-chr1:153538941..153542898,8	K562	blood:
11	chr1:153504127..153510657-chr1:153537210..153543304,15	K562	blood:
12	chr1:153507293..153508252-chr10:43932246..43932760,2	Hela-S3	cervix:
13	chr1:153506299..153508188-chr1:153578857..153582741,3	K562	blood:
14	chr1:153507471..153508095-chr5:133860277..133861255,2	Hela-S3	cervix:
15	chr1:153503567..153510701-chr1:153536906..153541884,20	MCF-7	breast:
16	chr1:153507230..153509062-chr1:153605925..153607769,2	MCF-7	breast:
17	chr1:153505490..153510008-chr1:153584041..153589482,7	MCF-7	breast:
18	chr1:153507404..153508006-chr5:41869991..41870750,2	Hela-S3	cervix:
19	chr1:153505889..153508485-chr1:153582874..153585873,3	MCF-7	breast:
20	chr1:45196436..45197066-chr1:153507531..153508059,2	Hela-S3	cervix:

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-S100A1-2	chr1:153507380-153507591	ENSG00000238279.1

No data

Variant related genes	Relation type
ENSG00000271853	Chromatin interaction
ENSG00000189171	Chromatin interaction
ENSG00000243660	Chromatin interaction
ENSG00000154845	Chromatin interaction
ENSG00000200169	Chromatin interaction
ENSG00000189334	Chromatin interaction
ENSG00000272030	Chromatin interaction
ENSG00000200156	Chromatin interaction
ENSG00000196154	Chromatin interaction
ENSG00000188643	Chromatin interaction
ENSG00000143621	Chromatin interaction
ENSG00000160679	Chromatin interaction
ENSG00000083720	Chromatin interaction
ENSG00000196754	Chromatin interaction
ENSG00000255062	Chromatin interaction
ENSG00000248668	Chromatin interaction
ENSG00000160678	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs73024434	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73026305	0.86[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010488	chr1:152901263-153670972	Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	236 gene(s)	inside rSNPs	diseases
2	nsv535171	chr1:152901263-153670972	Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	236 gene(s)	inside rSNPs	diseases
3	nsv1002705	chr1:153307852-153525589	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
4	nsv831603	chr1:153405842-153576143	Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	148 gene(s)	inside rSNPs	diseases
5	nsv1007306	chr1:153413827-153541798	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	146 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:153504000-153507600	Enhancers	Fetal Thymus	thymus
2	chr1:153504200-153507600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr1:153504800-153507800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
4	chr1:153504800-153507800	Flanking Active TSS	Duodenum Mucosa	Duodenum
5	chr1:153504800-153508000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
6	chr1:153505400-153507600	Enhancers	Fetal Lung	lung
7	chr1:153505400-153507600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
8	chr1:153505400-153507800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr1:153505400-153507800	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr1:153505400-153507800	Flanking Active TSS	HUVEC	blood vessel
11	chr1:153505400-153508000	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
12	chr1:153505400-153508000	Enhancers	Fetal Heart	heart
13	chr1:153505400-153508200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr1:153505400-153508200	Flanking Active TSS	Colonic Mucosa	Colon
15	chr1:153505400-153508400	Flanking Active TSS	NH-A	brain
16	chr1:153505600-153508000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
17	chr1:153505600-153508400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr1:153505800-153508400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr1:153505800-153508400	Flanking Active TSS	Osteobl	bone
20	chr1:153505800-153509200	Active TSS	Aorta	Aorta
21	chr1:153505800-153509400	Flanking Active TSS	Adipose Nuclei	Adipose
22	chr1:153506000-153507800	Transcr. at gene 5' and 3'	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr1:153506000-153507800	Transcr. at gene 5' and 3'	Muscle Satellite Cultured Cells	--
24	chr1:153506000-153508000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
25	chr1:153506000-153508000	Transcr. at gene 5' and 3'	NHLF	lung
26	chr1:153506000-153508200	Transcr. at gene 5' and 3'	Stomach Smooth Muscle	stomach
27	chr1:153506000-153508400	Transcr. at gene 5' and 3'	Fetal Stomach	stomach
28	chr1:153506200-153507600	Transcr. at gene 5' and 3'	Fetal Muscle Leg	muscle
29	chr1:153506200-153507600	Transcr. at gene 5' and 3'	Rectal Smooth Muscle	rectum
30	chr1:153506200-153507600	Transcr. at gene 5' and 3'	A549	lung
31	chr1:153506200-153508400	Transcr. at gene 5' and 3'	Primary T regulatory cells fromperipheralblood	blood
32	chr1:153506400-153507600	Transcr. at gene 5' and 3'	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr1:153506400-153507600	Transcr. at gene 5' and 3'	Primary T cells fromperipheralblood	blood
34	chr1:153506400-153507600	Weak transcription	Brain Germinal Matrix	brain
35	chr1:153506400-153507600	Transcr. at gene 5' and 3'	Esophagus	oesophagus
36	chr1:153506400-153507600	Weak transcription	Fetal Kidney	kidney
37	chr1:153506400-153507800	Transcr. at gene 5' and 3'	Fetal Intestine Small	intestine
38	chr1:153506400-153508000	Weak transcription	H9 Cell Line	embryonic stem cell
39	chr1:153506400-153508200	Transcr. at gene 5' and 3'	Skeletal Muscle Male	skeletal muscle
40	chr1:153506600-153507600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr1:153506600-153507600	Transcr. at gene 5' and 3'	Colon Smooth Muscle	Colon
42	chr1:153506600-153507600	Enhancers	Thymus	Thymus
43	chr1:153506600-153507600	Enhancers	HepG2	liver
44	chr1:153506600-153507800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr1:153506600-153507800	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr1:153506600-153508000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
47	chr1:153506600-153508000	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr1:153506600-153508000	Transcr. at gene 5' and 3'	HMEC	breast
49	chr1:153506600-153508000	Enhancers	K562	blood
50	chr1:153506600-153508200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood

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